What if the key to understanding autism isn't one gene — but thousands working together?

In this episode of Research Renaissance, host Deborah Westphal sits down with Dr. Daniel Gershwind, Gordon and Virginia McDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA, and Associate Vice Chancellor for Precision Health. A true pioneer in neurogenomics, Dr. Gershwind has spent over two decades reshaping how we understand autism and complex brain disorders — from building one of the first autism gene banks to applying transcriptomic network methods that revealed the molecular landscape of the brain in entirely new ways.

This conversation is as much about the science as it is about how science gets done — through collaboration, curiosity, and a willingness to tackle the problems others walk away from.

Key Takeaways

  • Genetics doesn't mean "everything is genetic" — all human disease has both genetic and environmental components, but genetics offers a powerful, tractable starting point for understanding cause
  • Looking at gene networks (rather than single genes) transformed the field by making sense of hundreds or thousands of genes at once — and revealing how biological systems adapt and respond to disruption
  • Autism affects approximately 1 in 100 children today — not because rates have risen, but because our ability to diagnose it has dramatically improved over the past 30 years
  • About 15% of people with autism can now be identified with a specific causative genetic mutation through whole genome or exome sequencing — pointing toward targeted, precision therapies
  • Transcriptomics (measuring RNA expression across the brain) revealed shared molecular patterns in autism brains across different patients — a surprising convergence that has since been validated in large sample sizes
  • Autism, schizophrenia, and bipolar disorder share some molecular pathology but are mostly molecularly distinct — a finding only visible at the transcriptomic level
  • CRISPR activation (without genome editing) has already been used in lab models to restore normal neuronal firing in certain autism-linked epilepsy syndromes — a proof of concept for future therapies
  • AI is now being used to connect gene networks to existing drugs, potentially accelerating drug discovery without needing full mechanistic understanding
  • Neurodegeneration (including Alzheimer's and frontotemporal dementia) is closer to clinical trials than autism — but the two fields are informing each other in real time

About the Guest

Dr. Daniel Gershwind is the Gordon and Virginia McDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA. He leads the Gershwind Lab and serves as Associate Vice Chancellor for Precision Health. He co-founded the Autism Genetic Resource Exchange (AGRE), which became the leading data resource for autism genetics research for over a decade, and has been instrumental in developing transcriptomic network approaches now used widely across the field.

Resources & Links

  • Karen Toffler Charitable Trust: karentoffler.org
  • Autism Genetic Resource Exchange (AGRE)
  • UCLA Gershwind Lab
  • PsychENCODE Consortium

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To learn more about the breakthroughs discussed in this episode and to support ongoing research, visit our website at tofflertrust.org.

Technical Podcast Support by Jon Keur at Wayfare Recording Co.

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